New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

Facts About Myopathies

Last Updated: 
Tue, 12/01/2009 - 15:55

MDA Matters Summer 2012

Six to be profiled on MDA SHOW OF STRENGTH

MDA's annual Labor Day weekend telecast is coming right up.

Renamed MDA SHOW of STRENGTH, this three-hour entertainment special will have a new look, feel and format — for details, see MDA Show of Strength.

Six individuals have been selected to help tell viewers about life with neuromuscular disease. (Note: Click on photos to expand; rollover for cutline.)

CCD - Muntoni

MDA awarded a grant totaling $375,000 to Francesco Muntoni, professor of pediatric neurology at University College London (UCL), United Kingdom, for research into the molecular mechanisms underlying central core disease (CCD) and multiminicore myopathies. Muntoni and Michael Duchen, professor of physiology, and cell and developmental biology, also at UCL, will work together, focusing on the mechanisms that lead to muscle weakness in the two diseases.

CCD/MH — Hamilton

MDA has awarded a research grant totaling $375,000 over a period of three years to Susan Hamilton, L.F. McCollum Chair in Molecular Physiology, department of molecular physiology and biophysics at Baylor College of Medicine in Houston. The funds will help support Hamilton’s study of the molecular mechanisms underlying a wide spectrum of muscle disorders including central core disease (CCD) and malignant hyperthermia (MH).

Study of Progression in CNM/MTM, CCD, Multiminicore Disease Is Open

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

Why Does It Take So Long To Go from Mouse to Man?

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Going to the Emergency Room: Tips for People with Neuromuscular Diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

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